These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 23322711)

  • 1. Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.
    Feigenbaum A; Müller C; Yale C; Kleinheinz J; Jezewski P; Kehl HG; MacDougall M; Rutsch F; Hennekam RC
    Am J Med Genet A; 2013 Feb; 161A(2):360-70. PubMed ID: 23322711
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
    Jang MA; Kim EK; Now H; Nguyen NT; Kim WJ; Yoo JY; Lee J; Jeong YM; Kim CH; Kim OH; Sohn S; Nam SH; Hong Y; Lee YS; Chang SA; Jang SY; Kim JW; Lee MS; Lim SY; Sung KS; Park KT; Kim BJ; Lee JH; Kim DK; Kee C; Ki CS
    Am J Hum Genet; 2015 Feb; 96(2):266-74. PubMed ID: 25620203
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
    Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid BM; Nordgren A; Lindstrand A
    Am J Med Genet A; 2017 May; 173(5):1396-1399. PubMed ID: 28319323
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
    Rutsch F; MacDougall M; Lu C; Buers I; Mamaeva O; Nitschke Y; Rice GI; Erlandsen H; Kehl HG; Thiele H; Nürnberg P; Höhne W; Crow YJ; Feigenbaum A; Hennekam RC
    Am J Hum Genet; 2015 Feb; 96(2):275-82. PubMed ID: 25620204
    [TBL] [Abstract][Full Text] [Related]  

  • 5. DDX58 and Classic Singleton-Merten Syndrome.
    Ferreira CR; Crow YJ; Gahl WA; Gardner PJ; Goldbach-Mansky R; Hur S; de Jesús AA; Nehrebecky M; Park JW; Briggs TA
    J Clin Immunol; 2019 Jan; 39(1):75-80. PubMed ID: 30574673
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.
    Ozyuksel A; Ersoy C; Canturk E; Akcevin A
    BMJ Case Rep; 2014 Sep; 2014():. PubMed ID: 25193816
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
    Vengoechea J; DiMonda J
    Am J Med Genet A; 2020 Jun; 182(6):1535-1536. PubMed ID: 32202700
    [No Abstract]   [Full Text] [Related]  

  • 8. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
    Bursztejn AC; Briggs TA; del Toro Duany Y; Anderson BH; O'Sullivan J; Williams SG; Bodemer C; Fraitag S; Gebhard F; Leheup B; Lemelle I; Oojageer A; Raffo E; Schmitt E; Rice GI; Hur S; Crow YJ
    Br J Dermatol; 2015 Dec; 173(6):1505-13. PubMed ID: 26284909
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
    de Carvalho LM; Ngoumou G; Park JW; Ehmke N; Deigendesch N; Kitabayashi N; Melki I; Souza FFL; Tzschach A; Nogueira-Barbosa MH; Ferriani V; Louzada-Junior P; Marques W; Lourenço CM; Horn D; Kallinich T; Stenzel W; Hur S; Rice GI; Crow YJ
    Arthritis Rheumatol; 2017 Oct; 69(10):2081-2091. PubMed ID: 28605144
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.
    Takeichi T; Katayama C; Tanaka T; Okuno Y; Murakami N; Kono M; Sugiura K; Aoyama Y; Akiyama M
    Br J Dermatol; 2018 Feb; 178(2):e111-e113. PubMed ID: 29270977
    [No Abstract]   [Full Text] [Related]  

  • 11. MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
    Buers I; Rice GI; Crow YJ; Rutsch F
    J Interferon Cytokine Res; 2017 May; 37(5):214-219. PubMed ID: 28475458
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Singleton-Merten syndrome: A rare cause of femoral head necrosis.
    Assaf E; Bdeir M; Mohs E; Dally FJ; Gravius S; Weis CA; Darwich A
    Am J Med Genet A; 2021 Oct; 185(10):3170-3175. PubMed ID: 34189824
    [TBL] [Abstract][Full Text] [Related]  

  • 13. R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study.
    Raghuraman P; Sudandiradoss C
    J Biomol Struct Dyn; 2019 Feb; 37(3):750-765. PubMed ID: 29429386
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome).
    Gay BB; Kuhn JP
    Radiology; 1976 Feb; 118(2):389-95. PubMed ID: 175395
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutières Syndrome and Singleton-Merten Syndrome.
    Gosu V; Sasidharan S; Saudagar P; Lee HK; Shin D
    Biomolecules; 2021 Aug; 11(8):. PubMed ID: 34439917
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation.
    Lu C; Mamaeva OA; Cui C; Amm H; Rutsch F; MacDougall M
    Connect Tissue Res; 2014 Aug; 55 Suppl 1():57-61. PubMed ID: 25158182
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5.
    Soda N; Sakai N; Kato H; Takami M; Fujita T
    J Immunol; 2019 Sep; 203(5):1356-1368. PubMed ID: 31366715
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variants.
    Lässig C; Lammens K; Gorenflos López JL; Michalski S; Fettscher O; Hopfner KP
    Elife; 2018 Jul; 7():. PubMed ID: 30047865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.
    Abu Tayeh A; Funabiki M; Shimizu S; Satoh S; Sumin L; Iwakura Y; Kato H; Fujita T
    Int Immunol; 2021 Mar; 33(4):211-224. PubMed ID: 33119735
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
    Nitschke Y; Rutsch F
    Curr Osteoporos Rep; 2017 Aug; 15(4):255-270. PubMed ID: 28585220
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.